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ACE angiotensin I converting enzyme [ Homo sapiens (human) ]

Gene ID: 1636, updated on 4-Jan-2025

Summary

Official Symbol
ACEprovided by HGNC
Official Full Name
angiotensin I converting enzymeprovided by HGNC
Primary source
HGNC:HGNC:2707
See related
Ensembl:ENSG00000159640 MIM:106180; AllianceGenome:HGNC:2707
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
DCP; ACE1; DCP1; CD143
Summary
This gene encodes an enzyme involved in blood pressure regulation and electrolyte balance. It catalyzes the conversion of angiotensin I into a physiologically active peptide angiotensin II. Angiotensin II is a potent vasopressor and aldosterone-stimulating peptide that controls blood pressure and fluid-electrolyte balance. This angiotensin converting enzyme (ACE) also inactivates the vasodilator protein, bradykinin. Accordingly, the encoded enzyme increases blood pressure and is a drug target of ACE inhibitors, which are often prescribed to reduce blood pressure. This enzyme additionally plays a role in fertility through its ability to cleave and release GPI-anchored membrane proteins in spermatozoa. Many studies have associated the presence or absence of a 287 bp Alu repeat element in this gene with the levels of circulating enzyme. This polymorphism, as well as mutations in this gene, have been implicated in a wide variety of diseases including cardiovascular pathophysiologies, psoriasis, renal disease, stroke, and Alzheimer's disease. Regulation of the homologous ACE2 gene may be involved in progression of disease caused by several human coronaviruses, including SARS-CoV and SARS-CoV-2. Alternative splicing results in multiple transcript variants encoding both somatic (sACE) and male-specific testicular (tACE) isoforms. [provided by RefSeq, Sep 2020]
Annotation information
Note: This gene has been reviewed for its involvement in coronavirus biology, and is relevant for disease process.
Expression
Biased expression in small intestine (RPKM 118.5), duodenum (RPKM 76.7) and 7 other tissues See more
Orthologs
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Genomic context

See ACE in Genome Data Viewer
Location:
17q23.3
Exon count:
26
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (63477061..63498373)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (64347269..64368872)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (61554422..61575734)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene ReSE screen-validated silencer GRCh37_chr17:61512442-61512609 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:61513919-61514833 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:61514834-61515748 Neighboring gene cytochrome b561 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8815 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8816 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:61524253-61525066 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:61525067-61525879 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:61528047-61528547 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:61533342-61534200 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:61534201-61535059 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12545 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8817 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8818 Neighboring gene peptidylprolyl isomerase A pseudogene 55 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:61563854-61564354 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12546 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr17:61594037-61595236 Neighboring gene angiotensin I converting enzyme 3, pseudogene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:61611272-61611775 Neighboring gene potassium voltage-gated channel subfamily H member 6

Genomic regions, transcripts, and products

Expression

  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Disorder of cardiovascular system
MedGen: C0007222 GeneReviews: Not available
Compare labs
Hemorrhage, intracerebral, susceptibility to
MedGen: C3281105 OMIM: 614519 GeneReviews: Not available
Compare labs
Microvascular complications of diabetes, susceptibility to, 3
MedGen: C2675470 OMIM: 612624 GeneReviews: Not available
Compare labs
Renal tubular dysgenesis of genetic origin
MedGen: C5681536 OMIM: 267430 GeneReviews: Not available
Compare labs

EBI GWAS Catalog

Description
A genome-wide assessment of variability in human serum metabolism.
EBI GWAS Catalog
A genome-wide association study identifies new loci for ACE activity: potential implications for response to ACE inhibitor.
EBI GWAS Catalog
An atlas of genetic influences on human blood metabolites.
EBI GWAS Catalog
Genetic determinants influencing human serum metabolome among African Americans.
EBI GWAS Catalog
Genome-Wide Association Study of CSF Levels of 59 Alzheimer's Disease Candidate Proteins: Significant Associations with Proteins Involved in Amyloid Processing and Inflammation.
EBI GWAS Catalog
Human metabolic individuality in biomedical and pharmaceutical research.
EBI GWAS Catalog

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp160, precursor env HIV-1 gp160-derived peptide p18 presented by H-2Dd class I major histocompatibility complex molecules is processed by angiotensin-1 converting enzyme (ACE) prior to T cell stimulation by the peptide p18 PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

General gene information

Clone Names

  • MGC26566

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables actin binding PubMed 
enables bradykinin receptor binding PubMed 
enables calmodulin binding  
enables carboxypeptidase activity  
enables chloride ion binding PubMed 
enables endopeptidase activity PubMed 
enables exopeptidase activity PubMed 
enables heterocyclic compound binding  
enables metallodipeptidase activity PubMed 
enables metalloendopeptidase activity PubMed 
enables metallopeptidase activity  
enables metallopeptidase activity PubMed 
enables metallopeptidase activity  
enables metallopeptidase activity PubMed 
enables mitogen-activated protein kinase binding PubMed 
enables mitogen-activated protein kinase kinase binding PubMed 
enables peptidase activity PubMed 
enables peptidyl-dipeptidase activity  
enables peptidyl-dipeptidase activity PubMed 
enables peptidyl-dipeptidase activity PubMed 
enables peptidyl-dipeptidase activity PubMed 
enables protein binding PubMed 
enables tripeptidyl-peptidase activity PubMed 
enables zinc ion binding PubMed 
Items 1 - 25 of 62
Process Evidence Code Pubs
involved_in amyloid-beta metabolic process PubMed 
involved_in angiogenesis involved in coronary vascular morphogenesis  
involved_in angiotensin maturation PubMed 
involved_in angiotensin maturation PubMed 
involved_in angiotensin-activated signaling pathway  
involved_in animal organ regeneration  
involved_in antigen processing and presentation of peptide antigen via MHC class I PubMed 
involved_in arachidonate secretion PubMed 
involved_in blood vessel diameter maintenance PubMed 
involved_in blood vessel remodeling PubMed 
involved_in bradykinin catabolic process PubMed 
involved_in cell proliferation in bone marrow  
involved_in cellular response to aldosterone  
involved_in cellular response to glucose stimulus  
involved_in eating behavior  
involved_in embryo development ending in birth or egg hatching  
involved_in female pregnancy  
involved_in heart contraction  
involved_in hematopoietic stem cell differentiation PubMed 
involved_in hormone catabolic process PubMed 
involved_in hormone catabolic process PubMed 
involved_in hormone metabolic process PubMed 
involved_in kidney development PubMed 
involved_in kidney development  
involved_in lung alveolus development  
involved_in male gonad development  
involved_in mononuclear cell proliferation PubMed 
involved_in negative regulation of D-glucose import  
involved_in negative regulation of calcium ion import  
involved_in negative regulation of gap junction assembly  
involved_in negative regulation of gene expression  
involved_in neutrophil mediated immunity  
involved_in peptide catabolic process PubMed 
involved_in positive regulation of apoptotic process  
involved_in positive regulation of neurogenesis  
involved_in positive regulation of peptidyl-cysteine S-nitrosylation  
involved_in positive regulation of systemic arterial blood pressure  
involved_in positive regulation of vasoconstriction  
involved_in post-transcriptional regulation of gene expression  
involved_in proteolysis PubMed 
involved_in regulation of angiotensin metabolic process PubMed 
involved_in regulation of blood pressure PubMed 
involved_in regulation of heart rate by cardiac conduction  
involved_in regulation of hematopoietic stem cell proliferation PubMed 
involved_in regulation of hematopoietic stem cell proliferation  
involved_in regulation of renal output by angiotensin PubMed 
involved_in regulation of smooth muscle cell migration  
involved_in regulation of synaptic plasticity  
involved_in regulation of systemic arterial blood pressure by renin-angiotensin  
involved_in regulation of systemic arterial blood pressure by renin-angiotensin PubMed 
involved_in regulation of systemic arterial blood pressure by renin-angiotensin PubMed 
involved_in regulation of vasoconstriction PubMed 
involved_in response to dexamethasone  
involved_in response to hypoxia  
involved_in response to laminar fluid shear stress  
involved_in response to lipopolysaccharide  
involved_in response to nutrient levels  
involved_in response to thyroid hormone  
involved_in response to xenobiotic stimulus  
involved_in spermatogenesis  
involved_in substance P catabolic process PubMed 
involved_in vasoconstriction  
Items 1 - 25 of 62
Component Evidence Code Pubs
located_in basal plasma membrane  
located_in brush border membrane  
located_in endosome PubMed 
located_in external side of plasma membrane PubMed 
located_in extracellular exosome PubMed 
located_in extracellular exosome PubMed 
located_in extracellular region  
located_in extracellular space PubMed 
is_active_in extracellular space PubMed 
located_in extracellular space PubMed 
located_in lysosome PubMed 
is_active_in plasma membrane  
is_active_in plasma membrane PubMed 
located_in plasma membrane PubMed 
located_in plasma membrane  
located_in sperm midpiece  

General protein information

Preferred Names
angiotensin-converting enzyme
Names
CD143 antigen
angiotensin I converting enzyme (peptidyl-dipeptidase A) 1
carboxycathepsin
dipeptidyl carboxypeptidase 1
dipeptidyl carboxypeptidase I
kininase II
peptidase P
NP_000780.1
NP_001171528.1
NP_001369629.1
NP_001369630.1
NP_001369631.1
NP_690043.1
XP_006721800.3
XP_054171272.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_011648.1 RefSeqGene

    Range
    4989..26301
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000789.4NP_000780.1  angiotensin-converting enzyme isoform 1 precursor

    See identical proteins and their annotated locations for NP_000780.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1), also known as the endothelial or somatic form, represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AB208971, AC113554, AK296566
    Consensus CDS
    CCDS11637.1
    UniProtKB/Swiss-Prot
    B0LPF0, B4DXI3, E7EU16, P12821, P22966, Q53YX9, Q59GY8, Q7M4L4
    UniProtKB/TrEMBL
    A0A0A0MSN4, I3UJJ7
    Related
    ENSP00000290866.4, ENST00000290866.10
    Conserved Domains (1) summary
    pfam01401
    Location:6431221
    Peptidase_M2; Angiotensin-converting enzyme
  2. NM_001178057.2NP_001171528.1  angiotensin-converting enzyme isoform 3 precursor

    See identical proteins and their annotated locations for NP_001171528.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks multiple 5' exons and an in-frame exon in the 3' region, but has an alternate 5' exon, compared to variant 1. The resulting isoform (3) is shorter, and has a distinct N-terminus and lacks an internal segment, compared to isoform 1.
    Source sequence(s)
    AB208971, AC113554, AK301988, BM908222, M26657
    Consensus CDS
    CCDS54155.1
    UniProtKB/TrEMBL
    F6X3S4, L7MUH0
    Related
    ENSP00000392247.3, ENST00000413513.7
    Conserved Domains (1) summary
    pfam01401
    Location:69606
    Peptidase_M2; Angiotensin-converting enzyme
  3. NM_001382700.1NP_001369629.1  angiotensin-converting enzyme isoform 4

    Status: REVIEWED

    Source sequence(s)
    AC113554
    Conserved Domains (2) summary
    pfam01401
    Location:4541032
    Peptidase_M2; Angiotensin-converting enzyme
    cl14813
    Location:184434
    GluZincin; Gluzincin Peptidase family (thermolysin-like proteinases, TLPs) which includes peptidases M1, M2, M3, M4, M13, M32 and M36 (fungalysins)
  4. NM_001382701.1NP_001369630.1  angiotensin-converting enzyme isoform 5

    Status: REVIEWED

    Source sequence(s)
    AC113554
    Conserved Domains (2) summary
    pfam01401
    Location:359937
    Peptidase_M2; Angiotensin-converting enzyme
    cl14813
    Location:1339
    GluZincin; Gluzincin Peptidase family (thermolysin-like proteinases, TLPs) which includes peptidases M1, M2, M3, M4, M13, M32 and M36 (fungalysins)
  5. NM_001382702.1NP_001369631.1  angiotensin-converting enzyme isoform 6

    Status: REVIEWED

    Source sequence(s)
    AC113554
    UniProtKB/TrEMBL
    B4DXK6
    Conserved Domains (1) summary
    pfam01401
    Location:1426
    Peptidase_M2; Angiotensin-converting enzyme
  6. NM_152830.3NP_690043.1  angiotensin-converting enzyme isoform 2 precursor

    See identical proteins and their annotated locations for NP_690043.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2), also known as the testicular form, lacks multiple 5' exons, but has an alternate 5' exon, compared to variant 1. The resulting isoform (2) is shorter and has a distinct N-terminus, compared to isoform 1.
    Source sequence(s)
    AB208971, AC113554, BM908222, M26657
    Consensus CDS
    CCDS45755.1
    UniProtKB/TrEMBL
    F6X3S4, L7MUH0
    Related
    ENSP00000290863.6, ENST00000290863.10
    Conserved Domains (1) summary
    pfam01401
    Location:69647
    Peptidase_M2; Angiotensin-converting enzyme

RNA

  1. NR_168483.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC113554

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    63477061..63498373
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006721737.4XP_006721800.3  angiotensin-converting enzyme isoform X1

    UniProtKB/TrEMBL
    B4DXK6

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    64347269..64368872
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054315297.1XP_054171272.1  angiotensin-converting enzyme isoform X1

    UniProtKB/TrEMBL
    B4DXK6

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